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Q8TDL5

- BPIB1_HUMAN

UniProt

Q8TDL5 - BPIB1_HUMAN

Protein

BPI fold-containing family B member 1

Gene

BPIFB1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 102 (01 Oct 2014)
      Sequence version 1 (01 Jun 2002)
      Previous versions | rss
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    Functioni

    May play a role in innate immunity in mouth, nose and lungs. Binds bacterial lipopolysaccharide (LPS) and modulates the cellular responses to LPS.1 Publication

    GO - Molecular functioni

    1. lipid binding Source: InterPro

    GO - Biological processi

    1. innate immune response in mucosa Source: UniProt
    2. negative regulation of toll-like receptor 4 signaling pathway Source: UniProt

    Keywords - Biological processi

    Immunity, Innate immunity

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    BPI fold-containing family B member 1
    Alternative name(s):
    Long palate, lung and nasal epithelium carcinoma-associated protein 1
    Von Ebner minor salivary gland protein
    Short name:
    VEMSGP
    Gene namesi
    Name:BPIFB1
    Synonyms:C20orf114, LPLUNC1
    ORF Names:UNQ706/PRO1357
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 20

    Organism-specific databases

    HGNCiHGNC:16108. BPIFB1.

    Subcellular locationi

    Secreted By similarity

    GO - Cellular componenti

    1. extracellular region Source: UniProt
    2. extracellular space Source: InterPro
    3. extracellular vesicular exosome Source: UniProt

    Keywords - Cellular componenti

    Secreted

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA25654.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2121Sequence AnalysisAdd
    BLAST
    Chaini22 – 484463BPI fold-containing family B member 1PRO_0000017180Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi48 – 481N-linked (GlcNAc...)Sequence Analysis
    Disulfide bondi158 ↔ 201By similarity
    Glycosylationi264 – 2641N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi401 – 4011N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Disulfide bond, Glycoprotein

    Proteomic databases

    PaxDbiQ8TDL5.
    PRIDEiQ8TDL5.

    PTM databases

    PhosphoSiteiQ8TDL5.

    Expressioni

    Tissue specificityi

    Detected in duodenum mucosal crypts of cholera patients, near Paneth cells (at protein level). Detected in trachea, nasal septal epithelium and lung.1 Publication

    Gene expression databases

    BgeeiQ8TDL5.
    CleanExiHS_C20orf114.
    GenevestigatoriQ8TDL5.

    Organism-specific databases

    HPAiHPA024256.

    Interactioni

    Protein-protein interaction databases

    BioGridi124975. 1 interaction.
    IntActiQ8TDL5. 1 interaction.

    Structurei

    3D structure databases

    ProteinModelPortaliQ8TDL5.
    SMRiQ8TDL5. Positions 54-211.
    ModBaseiSearch...
    MobiDBiSearch...

    Family & Domainsi

    Sequence similaritiesi

    Belongs to the BPI/LBP/Plunc superfamily. Plunc family.Curated

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiNOG302127.
    HOVERGENiHBG052339.
    InParanoidiQ8TDL5.
    OMAiDRIHLMN.
    OrthoDBiEOG7VB2FG.
    PhylomeDBiQ8TDL5.
    TreeFamiTF338541.

    Family and domain databases

    InterProiIPR017943. Bactericidal_perm-incr_a/b_dom.
    IPR001124. Lipid-bd_serum_glycop_C.
    IPR017942. Lipid-bd_serum_glycop_N.
    IPR021193. PLUNC_long_form.
    [Graphical view]
    PfamiPF01273. LBP_BPI_CETP. 1 hit.
    PF02886. LBP_BPI_CETP_C. 1 hit.
    [Graphical view]
    PIRSFiPIRSF037186. PLUNC_long_form. 1 hit.
    SMARTiSM00328. BPI1. 1 hit.
    [Graphical view]
    SUPFAMiSSF55394. SSF55394. 2 hits.

    Sequences (2)i

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    This entry describes 2 isoformsi produced by alternative splicing. Align

    Isoform 1 (identifier: Q8TDL5-1) [UniParc]FASTAAdd to Basket

    This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

    « Hide

    MAGPWTFTLL CGLLAATLIQ ATLSPTAVLI LGPKVIKEKL TQELKDHNAT    50
    SILQQLPLLS AMREKPAGGI PVLGSLVNTV LKHIIWLKVI TANILQLQVK 100
    PSANDQELLV KIPLDMVAGF NTPLVKTIVE FHMTTEAQAT IRMDTSASGP 150
    TRLVLSDCAT SHGSLRIQLL HKLSFLVNAL AKQVMNLLVP SLPNLVKNQL 200
    CPVIEASFNG MYADLLQLVK VPISLSIDRL EFDLLYPAIK GDTIQLYLGA 250
    KLLDSQGKVT KWFNNSAASL TMPTLDNIPF SLIVSQDVVK AAVAAVLSPE 300
    EFMVLLDSVL PESAHRLKSS IGLINEKAAD KLGSTQIVKI LTQDTPEFFI 350
    DQGHAKVAQL IVLEVFPSSE ALRPLFTLGI EASSEAQFYT KGDQLILNLN 400
    NISSDRIQLM NSGIGWFQPD VLKNIITEII HSILLPNQNG KLRSGVPVSL 450
    VKALGFEAAE SSLTKDALVL TPASLWKPSS PVSQ 484
    Length:484
    Mass (Da):52,442
    Last modified:June 1, 2002 - v1
    Checksum:iA32A85F74D544E81
    GO
    Isoform 2 (identifier: Q8TDL5-2) [UniParc]FASTAAdd to Basket

    The sequence of this isoform differs from the canonical sequence as follows:
         1-169: Missing.
         170-220: LHKLSFLVNA...MYADLLQLVK → MCCPGGHYTL...RGRARRSPWS
         328-329: AA → LQ
         330-484: Missing.

    Note: No experimental confirmation available.

    Show »
    Length:160
    Mass (Da):17,695
    Checksum:i235B7A2830539689
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti171 – 1711H → Y in AAQ88958. (PubMed:12975309)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti84 – 841I → V.1 Publication
    Corresponds to variant rs1078761 [ dbSNP | Ensembl ].
    VAR_016756
    Natural varianti140 – 1401T → A.
    Corresponds to variant rs34578060 [ dbSNP | Ensembl ].
    VAR_049747
    Natural varianti284 – 2841V → M.
    Corresponds to variant rs6141383 [ dbSNP | Ensembl ].
    VAR_049748
    Natural varianti287 – 2871D → H.
    Corresponds to variant rs34548457 [ dbSNP | Ensembl ].
    VAR_049749
    Natural varianti298 – 2981S → P.
    Corresponds to variant rs6120221 [ dbSNP | Ensembl ].
    VAR_023361
    Natural varianti313 – 3131S → I.
    Corresponds to variant rs6120222 [ dbSNP | Ensembl ].
    VAR_023362
    Natural varianti464 – 4641T → S.1 Publication
    Corresponds to variant rs17856249 [ dbSNP | Ensembl ].
    VAR_049750
    Natural varianti479 – 4791S → T.2 Publications
    Corresponds to variant rs1999663 [ dbSNP | Ensembl ].
    VAR_016757

    Alternative sequence

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Alternative sequencei1 – 169169Missing in isoform 2. 1 PublicationVSP_015285Add
    BLAST
    Alternative sequencei170 – 22051LHKLS…LQLVK → MCCPGGHYTLILRRGNRFRR EKRPAKVTGAQTEVQLAPPL PRGRARRSPWS in isoform 2. 1 PublicationVSP_015286Add
    BLAST
    Alternative sequencei328 – 3292AA → LQ in isoform 2. 1 PublicationVSP_015287
    Alternative sequencei330 – 484155Missing in isoform 2. 1 PublicationVSP_015288Add
    BLAST

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF364078 mRNA. Translation: AAM00283.1.
    AY358595 mRNA. Translation: AAQ88958.1.
    AK127971 mRNA. Translation: BAC87212.1.
    AK290243 mRNA. Translation: BAF82932.1.
    AL121901, AL355392 Genomic DNA. Translation: CAI14743.1.
    AL355392, AL121901 Genomic DNA. Translation: CAI19398.1.
    BC008429 mRNA. Translation: AAH08429.1.
    CCDSiCCDS13218.1. [Q8TDL5-1]
    RefSeqiNP_149974.2. NM_033197.2. [Q8TDL5-1]
    UniGeneiHs.65551.

    Genome annotation databases

    EnsembliENST00000253354; ENSP00000253354; ENSG00000125999. [Q8TDL5-1]
    GeneIDi92747.
    KEGGihsa:92747.
    UCSCiuc002wyw.1. human. [Q8TDL5-1]
    uc031rst.1. human. [Q8TDL5-2]

    Polymorphism databases

    DMDMi34395685.

    Keywords - Coding sequence diversityi

    Alternative splicing, Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    AF364078 mRNA. Translation: AAM00283.1 .
    AY358595 mRNA. Translation: AAQ88958.1 .
    AK127971 mRNA. Translation: BAC87212.1 .
    AK290243 mRNA. Translation: BAF82932.1 .
    AL121901 , AL355392 Genomic DNA. Translation: CAI14743.1 .
    AL355392 , AL121901 Genomic DNA. Translation: CAI19398.1 .
    BC008429 mRNA. Translation: AAH08429.1 .
    CCDSi CCDS13218.1. [Q8TDL5-1 ]
    RefSeqi NP_149974.2. NM_033197.2. [Q8TDL5-1 ]
    UniGenei Hs.65551.

    3D structure databases

    ProteinModelPortali Q8TDL5.
    SMRi Q8TDL5. Positions 54-211.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 124975. 1 interaction.
    IntActi Q8TDL5. 1 interaction.

    PTM databases

    PhosphoSitei Q8TDL5.

    Polymorphism databases

    DMDMi 34395685.

    Proteomic databases

    PaxDbi Q8TDL5.
    PRIDEi Q8TDL5.

    Protocols and materials databases

    DNASUi 92747.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000253354 ; ENSP00000253354 ; ENSG00000125999 . [Q8TDL5-1 ]
    GeneIDi 92747.
    KEGGi hsa:92747.
    UCSCi uc002wyw.1. human. [Q8TDL5-1 ]
    uc031rst.1. human. [Q8TDL5-2 ]

    Organism-specific databases

    CTDi 92747.
    GeneCardsi GC20P031864.
    HGNCi HGNC:16108. BPIFB1.
    HPAi HPA024256.
    neXtProti NX_Q8TDL5.
    PharmGKBi PA25654.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG302127.
    HOVERGENi HBG052339.
    InParanoidi Q8TDL5.
    OMAi DRIHLMN.
    OrthoDBi EOG7VB2FG.
    PhylomeDBi Q8TDL5.
    TreeFami TF338541.

    Miscellaneous databases

    GenomeRNAii 92747.
    NextBioi 77869.
    PROi Q8TDL5.

    Gene expression databases

    Bgeei Q8TDL5.
    CleanExi HS_C20orf114.
    Genevestigatori Q8TDL5.

    Family and domain databases

    InterProi IPR017943. Bactericidal_perm-incr_a/b_dom.
    IPR001124. Lipid-bd_serum_glycop_C.
    IPR017942. Lipid-bd_serum_glycop_N.
    IPR021193. PLUNC_long_form.
    [Graphical view ]
    Pfami PF01273. LBP_BPI_CETP. 1 hit.
    PF02886. LBP_BPI_CETP_C. 1 hit.
    [Graphical view ]
    PIRSFi PIRSF037186. PLUNC_long_form. 1 hit.
    SMARTi SM00328. BPI1. 1 hit.
    [Graphical view ]
    SUPFAMi SSF55394. SSF55394. 2 hits.
    ProtoNeti Search...

    Publicationsi

    1. "PLUNC: a novel family of candidate host defence proteins expressed in the upper airways and nasopharynx."
      Bingle C.D., Craven C.J.
      Hum. Mol. Genet. 11:937-943(2002) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
      Tissue: Lung, Nasal epithelium and Submandibular gland.
    2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
      , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
      Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2), VARIANT THR-479.
      Tissue: Cervix and Testis.
    4. "The DNA sequence and comparative analysis of human chromosome 20."
      Deloukas P., Matthews L.H., Ashurst J.L., Burton J., Gilbert J.G.R., Jones M., Stavrides G., Almeida J.P., Babbage A.K., Bagguley C.L., Bailey J., Barlow K.F., Bates K.N., Beard L.M., Beare D.M., Beasley O.P., Bird C.P., Blakey S.E.
      , Bridgeman A.M., Brown A.J., Buck D., Burrill W.D., Butler A.P., Carder C., Carter N.P., Chapman J.C., Clamp M., Clark G., Clark L.N., Clark S.Y., Clee C.M., Clegg S., Cobley V.E., Collier R.E., Connor R.E., Corby N.R., Coulson A., Coville G.J., Deadman R., Dhami P.D., Dunn M., Ellington A.G., Frankland J.A., Fraser A., French L., Garner P., Grafham D.V., Griffiths C., Griffiths M.N.D., Gwilliam R., Hall R.E., Hammond S., Harley J.L., Heath P.D., Ho S., Holden J.L., Howden P.J., Huckle E., Hunt A.R., Hunt S.E., Jekosch K., Johnson C.M., Johnson D., Kay M.P., Kimberley A.M., King A., Knights A., Laird G.K., Lawlor S., Lehvaeslaiho M.H., Leversha M.A., Lloyd C., Lloyd D.M., Lovell J.D., Marsh V.L., Martin S.L., McConnachie L.J., McLay K., McMurray A.A., Milne S.A., Mistry D., Moore M.J.F., Mullikin J.C., Nickerson T., Oliver K., Parker A., Patel R., Pearce T.A.V., Peck A.I., Phillimore B.J.C.T., Prathalingam S.R., Plumb R.W., Ramsay H., Rice C.M., Ross M.T., Scott C.E., Sehra H.K., Shownkeen R., Sims S., Skuce C.D., Smith M.L., Soderlund C., Steward C.A., Sulston J.E., Swann R.M., Sycamore N., Taylor R., Tee L., Thomas D.W., Thorpe A., Tracey A., Tromans A.C., Vaudin M., Wall M., Wallis J.M., Whitehead S.L., Whittaker P., Willey D.L., Williams L., Williams S.A., Wilming L., Wray P.W., Hubbard T., Durbin R.M., Bentley D.R., Beck S., Rogers J.
      Nature 414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    5. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS VAL-84; SER-464 AND THR-479.
      Tissue: Skeletal muscle.
    6. Cited for: LIPOPOLYSACCHARIDE-BINDING, TISSUE SPECIFICITY, FUNCTION.

    Entry informationi

    Entry nameiBPIB1_HUMAN
    AccessioniPrimary (citable) accession number: Q8TDL5
    Secondary accession number(s): A8K2H8
    , Q5QP43, Q6UWY1, Q6ZRU7, Q96HK6, Q9BQP8, Q9BWZ6, Q9H4V6
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: August 29, 2003
    Last sequence update: June 1, 2002
    Last modified: October 1, 2014
    This is version 102 of the entry and version 1 of the sequence. [Complete history]
    Entry statusiReviewed (UniProtKB/Swiss-Prot)
    Annotation programChordata Protein Annotation Program
    DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

    1. Human chromosome 20
      Human chromosome 20: entries, gene names and cross-references to MIM
    2. Human entries with polymorphisms or disease mutations
      List of human entries with polymorphisms or disease mutations
    3. Human polymorphisms and disease mutations
      Index of human polymorphisms and disease mutations
    4. SIMILARITY comments
      Index of protein domains and families

    External Data

    Dasty 3